伴有复杂核型异常的髓系恶性血液病5号染色体异常分析

Aberrations of Chromosome 5 in Myeloid Malignancies with Complex Chromosome Abnormalities

为了研究伴有复杂核型异常的髓系恶性血液病的5号染色体异常,对68例经常规染色体分析及多重荧光原位杂交技术检测为复杂核型异常的髓系恶性血液病患者(急性髓系白血病22例,慢性髓系白血病32例和骨髓增生异常综合征14例)的染色体核型进行了分析,研究5号染色体异常情况。结果表明:68例标本中复杂核型异常涉及所有染色体,而5号染色体异常发生率较高,为38.2%(26/68),其中急性髓系白血病发生率为45.5%(10/22),慢性髓系白血病为15.6%(5/32),骨髓增生异常综合征为78.6%(11/14)。涉及的染色体异常以非平衡易位多见,其中有11例同时存在5号和17号染色体异常,9例同时存在5号和7号染色体异常。结论:髓系恶性血液病复杂核型异常中5号染色体异常多见,多为不平衡易位;5号染色体存在异常的病例通常同时伴有7号或17号染色体异常。

This study was aimed to investigate the chromosome 5 abnormalities in complex chromosome aberrations （CCAs） in myeloid malignancies, chromosome aberrations of 68 cases of myeloid malignancies with CCAs were analysed. The 68 cases included 22 cases of acute myeloblastic leukemia （AML）, 32 cases of chronic myeloid leukemia （CML） and 14 cases of myelodysplastic syndrome （MDS）. The results showed that the complex chromosome abnormalities were found in all chromosomes of 68 cases, but the incidence of chromosome 5 abnormatity was higher （38.2%, 26/68）, including 45.5% （10/22） in AML, 15.6% （5/32） in CML and 78.6% （11/14） in MDS. The most common aberrations in chromosomoe 5 were umbalanced translocations. The aberrations of chromosome 5 and chromosome 17 were confirmed simultaneously in 11 cases, the aberrations of chromosome 5 and chromosome 7 were confirmed simultaneously in 9 cases. It is concluded that the aberration of chromosome 5 is common in myeloid malignancies, and presents unbalanced translocation. Aberrations of chromosome 5 often accompany with aberrations of chromosome 7 or 17.